Linked Data
dbSNP Id:
rs915277618
gnomAD v2:
4-40356205-C-A
gnomAD v3:
4-40354188-C-A
gnomAD v4:
4-40354188-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354188C>A , CM000666.2:g.40354188C>A | GRCh38 |
| NC_000004.11:g.40356205C>A , CM000666.1:g.40356205C>A | GRCh37 |
| NC_000004.10:g.40050962C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310169.3:c.1108C>A MANE Select | ENSP00000312663.2:p.Leu370Ile | |
| ENST00000310169.2:c.1108C>A | ENSP00000312663.2:p.Leu370Ile | |
| NM_017581.3:c.1108C>A | NP_060051.2:p.Leu370Ile | |
| NM_017581.4:c.1108C>A MANE Select | NP_060051.2:p.Leu370Ile |